Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Ddx11'

507118

Institutional Source

Beutler Lab

Gene Symbol

Ddx11

Ensembl Gene

ENSMUSG00000035842

Gene Name

DEAD/H box helicase 11

Synonyms

4732462I11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, CHL1, essa15a, CHLR1, KRG2

MMRRC Submission

044405-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66430515-66459169 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 66457724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]

AlphaFold

Q6AXC6

Predicted Effect

probably null
Transcript: ENSMUST00000163605

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842

Domain	Start	End	E-Value	Type
DEXDc	11	408	1.14e-153	SMART
Blast:DEXDc2	430	479	6e-14	BLAST
HELICc	682	839	1.4e-66	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000224497

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226095

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,414,860 (GRCm39)	T341A	probably damaging	Het
Acer2	T	C	4: 86,792,823 (GRCm39)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,740,244 (GRCm39)	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,390,387 (GRCm39)		probably null	Het
Atm	A	C	9: 53,355,300 (GRCm39)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Chd2	T	C	7: 73,113,419 (GRCm39)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,019,805 (GRCm39)	L544P	probably damaging	Het
Cryga	A	C	1: 65,142,169 (GRCm39)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,195,576 (GRCm39)	Y261*	probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dst	A	C	1: 34,267,753 (GRCm39)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Eif4enif1	T	A	11: 3,177,793 (GRCm39)	V395E	probably damaging	Het
Enox1	A	G	14: 77,815,204 (GRCm39)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,355,631 (GRCm39)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Garnl3	T	C	2: 32,994,892 (GRCm39)	D39G	probably benign	Het
Gm14295	C	T	2: 176,500,782 (GRCm39)	Q91*	probably null	Het
Grb10	T	A	11: 11,920,639 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Herc2	T	A	7: 55,802,914 (GRCm39)	C2112*	probably null	Het
Herc2	T	G	7: 55,854,466 (GRCm39)	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,976,083 (GRCm39)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lingo4	G	A	3: 94,310,697 (GRCm39)	G545E	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Loricrin	C	A	3: 91,989,119 (GRCm39)	G56*	probably null	Het
Lrfn1	A	G	7: 28,159,169 (GRCm39)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,547,537 (GRCm39)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,312,984 (GRCm39)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,028,427 (GRCm39)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Ms4a7	A	T	19: 11,310,659 (GRCm39)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,750,062 (GRCm39)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 152,952,717 (GRCm39)	H102L	probably damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or52x1	G	A	7: 104,852,599 (GRCm39)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,160,522 (GRCm39)	L781P	probably damaging	Het
Prdm14	A	T	1: 13,189,160 (GRCm39)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rorb	C	A	19: 18,955,221 (GRCm39)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm39)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Slc52a3	G	T	2: 151,849,529 (GRCm39)		probably null	Het
Smco1	A	T	16: 32,092,832 (GRCm39)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Tmem225	T	A	9: 40,059,731 (GRCm39)	I37N	probably damaging	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Usp16	A	G	16: 87,280,079 (GRCm39)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,084,221 (GRCm39)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,475,207 (GRCm39)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,578,059 (GRCm39)		probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	possibly damaging	Het

Other mutations in Ddx11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ddx11	APN	17	66,441,132 (GRCm39)	missense	probably damaging	1.00
IGL01577:Ddx11	APN	17	66,446,398 (GRCm39)	missense	possibly damaging	0.95
IGL02558:Ddx11	APN	17	66,455,667 (GRCm39)	missense	probably damaging	0.99
IGL02801:Ddx11	APN	17	66,455,028 (GRCm39)	missense	probably benign	0.03
R1550:Ddx11	UTSW	17	66,445,215 (GRCm39)	missense	probably benign	0.16
R1587:Ddx11	UTSW	17	66,456,251 (GRCm39)	missense	probably damaging	1.00
R1601:Ddx11	UTSW	17	66,457,380 (GRCm39)	missense	probably damaging	1.00
R1625:Ddx11	UTSW	17	66,457,692 (GRCm39)	missense	probably benign	0.45
R1714:Ddx11	UTSW	17	66,455,754 (GRCm39)	missense	probably damaging	1.00
R1867:Ddx11	UTSW	17	66,442,934 (GRCm39)	splice site	probably null
R1959:Ddx11	UTSW	17	66,437,723 (GRCm39)	missense	probably benign	0.27
R1980:Ddx11	UTSW	17	66,455,734 (GRCm39)	missense	probably damaging	0.97
R2392:Ddx11	UTSW	17	66,456,968 (GRCm39)	missense	probably damaging	1.00
R3118:Ddx11	UTSW	17	66,456,272 (GRCm39)	missense	probably damaging	1.00
R3425:Ddx11	UTSW	17	66,446,434 (GRCm39)	missense	possibly damaging	0.62
R3983:Ddx11	UTSW	17	66,441,125 (GRCm39)	missense	probably damaging	1.00
R4571:Ddx11	UTSW	17	66,437,768 (GRCm39)	missense	probably benign	0.20
R4576:Ddx11	UTSW	17	66,457,721 (GRCm39)	missense	probably damaging	1.00
R4847:Ddx11	UTSW	17	66,437,796 (GRCm39)	missense	probably damaging	1.00
R5010:Ddx11	UTSW	17	66,454,717 (GRCm39)	missense	possibly damaging	0.60
R5414:Ddx11	UTSW	17	66,455,763 (GRCm39)	missense	probably benign	0.40
R5610:Ddx11	UTSW	17	66,457,021 (GRCm39)	missense	probably damaging	1.00
R5822:Ddx11	UTSW	17	66,436,976 (GRCm39)	missense	probably benign	0.00
R5972:Ddx11	UTSW	17	66,455,085 (GRCm39)	missense	probably benign	0.05
R6017:Ddx11	UTSW	17	66,437,012 (GRCm39)	missense
R6296:Ddx11	UTSW	17	66,457,724 (GRCm39)	critical splice donor site	probably null
R7205:Ddx11	UTSW	17	66,437,766 (GRCm39)	missense	probably benign	0.25
R7531:Ddx11	UTSW	17	66,445,214 (GRCm39)	missense	probably benign	0.00
R7544:Ddx11	UTSW	17	66,433,280 (GRCm39)	missense	probably damaging	0.98
R7593:Ddx11	UTSW	17	66,433,193 (GRCm39)	missense	possibly damaging	0.48
R7598:Ddx11	UTSW	17	66,437,541 (GRCm39)	splice site	probably null
R7778:Ddx11	UTSW	17	66,437,543 (GRCm39)	critical splice donor site	probably null
R7824:Ddx11	UTSW	17	66,437,543 (GRCm39)	critical splice donor site	probably null
R8087:Ddx11	UTSW	17	66,456,988 (GRCm39)	missense	probably damaging	1.00
R8379:Ddx11	UTSW	17	66,437,020 (GRCm39)	missense	probably benign
R8885:Ddx11	UTSW	17	66,450,460 (GRCm39)	missense	probably benign	0.00
R9071:Ddx11	UTSW	17	66,450,736 (GRCm39)	missense	probably damaging	1.00
R9252:Ddx11	UTSW	17	66,457,807 (GRCm39)	missense	probably benign	0.01
R9398:Ddx11	UTSW	17	66,436,912 (GRCm39)	missense	probably benign	0.38
R9556:Ddx11	UTSW	17	66,447,207 (GRCm39)	missense	probably benign	0.06
R9639:Ddx11	UTSW	17	66,437,012 (GRCm39)	missense
R9775:Ddx11	UTSW	17	66,445,157 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGAGTCTCGACTTGTGCATCTAC -3'
(R):5'- ACTAGAGTCCACTGCCTCTG -3'

Sequencing Primer
(F):5'- ACTTGTGCATCTACCCAGGCAG -3'
(R):5'- GGTACACTTGGCAGTCTGC -3'

Posted On

2018-03-15